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Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis

Sudheer R Gorla1, Kishore R Raja1, Ashish Garg1

  • 1Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami/Miller School of Medicine, Miami, Florida, United States.

Journal of Pediatric Genetics
|November 16, 2018
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) in infants is rare, often linked to genetic causes. This case highlights early-onset infantile HCM in a neonate with a PRKAG2 gene mutation, diagnosed prenatally.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a significant pediatric cardiac condition.
  • Its etiology is diverse, with varying symptom onset ages.
  • Early childhood presentation is common in HCM associated with genetic syndromes.

Observation:

  • Infantile HCM secondary to PRKAG2 gene mutations is infrequently reported.
  • This study details a neonate diagnosed with HCM prenatally.
  • Genetic analysis revealed a missense mutation in the PRKAG2 gene.

Findings:

  • The neonate presented with early-onset hypertrophic cardiomyopathy.
  • A novel missense mutation in the PRKAG2 gene was identified as the cause.
  • Prenatal diagnosis of HCM was achieved in this case.

Implications:

  • This case expands the understanding of PRKAG2-associated HCM.
  • It underscores the importance of genetic testing in infantile HCM.
  • Prenatal diagnosis can aid in early management of affected neonates.

Keywords:
Infantile Hypertrophic CardiomyopathyPRKAG2 gene mutationworse outcome

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